Immunodeficiency Disorders Lecture Powerpoint

Question 1

6 signs that immune system may not be functioning properly

Answer 1

1) 8 or more new ear infections in a year
2) two or more serious sinus infections in a year (particularly in kids)
3) two or more months on persistent antibiotics without relief
4) failure to thrive
5) oral thrush present after 1 year of age
6) recurrent need for IV antibiotics to clear infections

Question 2

CMV opportunistic infeection

Answer 2

Causes eye disease that can lead to blindness in immunocompromised host as well as infants thru maternal delivery

Question 3

Herpes simplex virus opportunistic infection

Answer 3

Very severe, recurrent, symptomatic herpes outbreaks can imply immunocompromised host

Question 4

Mycobacterium avium complex opportunistic infection

Answer 4

Bacterial infection causing recurring fevers and malaise in immunocompromised host

Question 5

Pneumocystis pneumonia (PCP) opportunistic infection

Answer 5

Fungal infection that can cause fatal pneumonia, fairly common in immunocompromised hosts

Question 6

Toxoplasmosis

Answer 6

Protozoal infection of the brain often sourced from cat feces in immunocompromised hosts

Question 7

Primary vs 2ndary immunodeficiencies

Answer 7

Primary are not attributable to other disease processes, 2ndary are such as DM, cushings, chemo

Question 8

Significant molecule in the production of neutrophils and macrophages

Answer 8

Colony stimulating factor (G-CSF)

Question 9

Congenital neutropenia (what type is it, what should you know about it)

Answer 9

Production disorder, rare, caused by an ELANE gene mutation

Question 10

Cyclic neutropenia (what type is it, what should you know about it)

Answer 10

Production disorder, monthly rise and fall in wbc being produced, might see patient getting sick during those times but rarely impacts life significanly

Question 11

Chediak Higashi syndrome(what type is it, what should you know about it)

Answer 11

Production disorder, autosomal recessive disorder resulting in partial albinisim, impaired phagolysosome production resulting in large granules, frequent bacterial infections, and peripheral neuropathy later in life

Question 12

4 types of disorders around phagocytes

Answer 12

1) production
2) maturation
3) increased destruction
4) autoimmune

Question 13

Maturation disorders of phagocytes (3)

Answer 13

• nutritional B12/folate deficiency
• myelodysplastic syndromes
• viral infections

Question 14

Disorders of increased destruction of phagocytes (3)

Answer 14

• Antiboties
• Vaccines
• post infection disorders

Question 15

Autoimmune disorders of phagocytes (4)

Answer 15

• Felty syndrome
• systemic lupus erythematosus
• rheumatoid arthritis
• transfusion reaction

Question 16

Felty syndrome and the triad for diagnosis

Answer 16

Mostly assymptomatic, some develop serious and life threatening infections secondary to granulocytopenia

Rheumatoid arthritis, splenomegaly, neutropenia

Question 17

Glucocorticosteroids positive and negative effects on the neutrophil

Answer 17

Positive - enhance production and mobilize marginated (peripheral pool ) into circulation
Negative - reduce adherence capacity and chemotactic properties

Question 18

Measuring neutrophil count after taking prednisone will result in a…. because…

Answer 18

…falsely elevated result due to the mech of glucocorticosteroids drawing the neutrophils from the marginated pool to the circulation

Question 19

X linked agammaglobulinemia (bruton syndrome) notes (4)

Answer 19

• tyrosine kinase enzyme is deficient preventing the progression of B cells in development
• No mature B cells reach periopheral circulation
• Lymphoid structures are hypoplastic
• Found only in boys

Question 20

X linked agammaglobulinemia clinical presentation, common lab results

Answer 20

-increased infections detected after 5 months of age, low Ig, no B cells

Question 21

X linked agammaglobulinemia treatment and prognosis

Answer 21

• Gamma globulin administration weekly
• prophylatic antibiotics

-Excellent normal life span with lack of GI protection because IgA is skipping the gut

Question 22

Common variable acquired immune deficiency notes (4)

Answer 22

• most common of treatable immunoglobulin deficit states
• B cells do not respond to T cell signaling
• Absence of helper T cells
• Most common onset ages are between 6-8 and 15-35

Question 23

Common variable immune deficiency clinical presentation, common lab result

Answer 23

-Severe respiratory infections, malabsorption

Low Ig, B cells are immature with no plasma cells

Question 24

Common variable immune deficiency treatment an dprognosis

Answer 24

-Gamma globulin balanced between immunosuprression of autoimmune disease while still fighting infection

Good prognosis

Question 25

Hyper IgM syndromes definition, and how is it genetically favored?

Answer 25

Occur when T cell lacks signal to make B cell switch from making IgM to more specific IgG or A, either X linked or autosomal recessive

Question 26

Common clinical presentation of hyper IgM syndrome

Answer 26

Opportunistic pneumocystis jiroveci pneumonia in the 1st year of life

Question 27

Hyper IgM syndrome lab results

Answer 27

- Neutropenia - High IgM - Very low IgA and G - Absent memory B cells

Question 28

Hyper IgM syndrome treatment and prognosis

Answer 28

Treated with IVIg, in the case of X linked dominant can be treated with a stem cell transplant Prognosis is good for autosomal recessive and worse for X linked dominant requiring stem cell transplant and rarely live beyond 30

Question 29

Most common of all immunodeficiencies and what group does it affect the most?

Answer 29

IgA, caucasians

Question 30

Common clinical presentation of IgA deficiency and lab results

Answer 30

Recurrent bacterial infections of respiratory and GI origin, otherwise typically healthy IgA tests show <5mg/dl for diagnosis

Question 31

IgA deficiency treatment and prognosis

Answer 31

No treatment beyond symptomatic, good normal life expectancy

Question 32

Transient hypogammaglobulinemia of pregnancy definition

Answer 32

Low antibody in new born from birth to up to 3 years, due to infant not getting any maternal antibody, common and self limiting with no sequelae

Question 33

DiGeorge syndrome key points (4)

Answer 33

- Deficit of T cells - Defect of chromosome 22 in 50% of cases - Results in poor or no development of several body systems - Has triad of absent thymus, absent parathyroid (hypocalcemia), tetralogy of Fallot - Facial congenital abnormalities

Question 34

DiGeorge syndrome labs

Answer 34

- Low T cell cound - More CD4 than CD8 - Hypocalcemia

Question 35

DiGeorge sydrome treatment and prognosis

Answer 35

Varies from no treatment all the way up to thymus transplant Requires thymus transplant or marrow transplant

Question 36

Chronic mucocutaneous candidiasis definition

Answer 36

Functional deficit of T cell product cytokine that keeps candida in check

Question 37

Chronic mucocutaneous candidiasis clinical presentation and lab results

Answer 37

Recurrent or persistent severe skin and mucous membrane infections with scarring or disfigurement KOH prep, HGB AIC , skin prick test

Question 38

Chronic mucocutaneous candidiasis treatment and prognosis

Answer 38

Systemic antifungals for treatment Life expectancy is generally normal but can cause premature death in disseminated sepsis

Question 39

Severe combined immunodeficiency (SCID) definition

Answer 39

Complete lack of T and B cells,

Question 40

Severe combined immunodeficiency (SCID) clinical presentation and labs

Answer 40

Medical emergency, often see pneumocystis jiroveci infection Low lymphocyte count, normal IgG, high IgE and A, low IgM

Question 41

Severe combined immunodeficiency (SCID) treatment and prognosis

Answer 41

Protection in bubble, IVIg, stem cell transplant even if unmatched Delayed diagnosis has poor outcomes

Question 42

Wiskott Aldrich syndrome definition

Answer 42

Dysfunction of T cells

Question 43

Wiskott Aldrich syndrome triad of clinical presentation and Labs

Answer 43

Triad of eczema, thrombocytopenia, recurrent infections, bleeding and bruising Low thrombocytes,

Question 44

Wiskott Aldrich syndrome treatment and prognosis

Answer 44

Fully matched stem cell transplant early in life, antibiotic prophylaxis, IVIg Common to see autoimmune diseases and lymphoma